To know that one has a genetic disorder can be a life-threatening experience: it might change a number of dreams including marriage, career choice, having children, and other life plans. Knowing the results of a genetic test may affect not only the life of the person in question, but possibly the people surrounding him or her.

According to one certified clinical geneticist (rinshô-iden-senmon-i: CCGs hereafter),Footnote ¹ each case is different and it is unwise to generalize about patients’ motivation for taking a genetic test. Yet interviews with patients indicate that the issues of marriage and reproduction are outstanding concerns and the main reason for taking a genetic test. Even in cases in which they are not primary, these two concerns are visible in all the stated motivations for taking a genetic test.

This article asks how marriage and reproduction matter when a disorder is genetic. Considering marriage and reproduction as cultural events, we discuss how marriage and reproduction become primary problems when one has a genetic disorder in Japan. By doing so, we aim to illuminate actual and concrete anxieties around taking a genetic test, which will also eventually lead us to understand some cultural meanings of having a genetic disorder.

A number of studies (Numabe, Reference Numabe2007) as well as governmental documents (Ministry of Education, Culture, Sport, Science and Technology, 2000) have emphasized the importance of respecting culture in dealing with a genetic disorder and genetic information. Respect for culture is of course important. Yet, we propose that what seems to be respect for culture might sometimes actually be hiding superstitions and culturally embedded prejudice about genetic disorders. It might even have the effect of augmenting taboos. We show this by examining the motivation of couples for taking a genetic test and by tracing the ways in which ‘genetic information’ is understood in a socio-cultural context.

Method

During fieldwork in Japan in 2006 and 2007, the first author interviewed 12 patients from 8 households (see Appendix). Patients were contacted on a personal basis, as they could not be approached through official institutions because of issues of confidentiality and privacy. Cases 1, 2, 6, 7 and 8 were introduced by patient groups. Cases 3, 4 and 5 were introduced by CCGs/paediatricians. In all cases the patients were shown the research brochure and were asked for informed consent so that they were reassured about their anonymity and about the confidentiality of the data and its appropriate use. Each of the patients was interviewed in Japanese for 1–3 hours, after which these semi-structured interviews were translated by the first author for the purpose of this research.

Six out of eight households took a genetic test; two did not. The interviews showed that the decision to take a genetic test largely depends on the interviewee’s views of marriage and plans for reproduction. Comparing eight case studies regarding the factors that lead people to have a genetic test revealed subtle differences in their views on these two issues, which were crucial in influencing their decision to take a genetic carrier test.

The kinds of disorders for which patients were tested differ among the interviewees, but some common characteristics are: there is no remedy for any of the disorders and the patients all expected to need special equipment, such as a wheelchair, eventually. Currently, the only available treatments consist of diet, physical exercise and some medication. All of the interviewees were resigned to the fact that they have a genetic disorder, which is why they could be interviewed.Footnote ²

As genetic counselling is relatively new in Japan, CCGs have had to explore suitable forms of counselling for introduction into Japan. During field research, the first author interviewed 10 CCGs about the motivation of patients for taking a genetic test.

Cultures of marriage, reproduction and genetic testing were interpreted in the light of previous studies on the socio-cultural meanings of genetic heredity (Nomaguchi et al., Reference Nomaguchi, Hasegawa, Yamaguchi and Itai2007; Numabe, Reference Numabe2007; Tajima, Reference Tajima and Aoki1998; Tamura, Reference Tamura and Fukuhara2007; Tomiwa, Reference Tomiwa and Aoki1998; Tsukamoto, Reference Tsukamoto2005; Watanabe, Reference Yoshizumi, Fujimura-Fanselow and Kameda2007), as well as previous studies on illness, health (Lock, Reference Lock1980; Reynolds, Reference Reynolds, Norbeck and Lock1987), family (Fuess, Reference Fuess2004; Sugiyama-Lebra, Reference Sugiyama-Lebra1984; Yoshizumi, Reference Yoshizumi, Fujimura-Fanselow and Kameda1995) and care (Kiefer, Reference Kiefer, Norbeck and Lock1987; Traphagan, Reference Traphagan1998) in Japan.

In support of the analysis of the eight cases, this article refers to the evidence from 46 other interviews. These interviews consist of accounts of how expecting couples have decided to take a genetic test to check the health condition of a foetus during pregnancy. Out of the 46, 34 are women and 12 are their husbands.Footnote ³ Twelve have an anomaly, 10 gave birth to children with an anomaly as a spontaneous genetic event and 4 gave birth to children with a genetic disorder knowing that they would have the disorder. These stories provided information on how people thought about the connection between the future marriage of their children, reproduction and a genetic disorder.

Why take a genetic test? The influence of ideas about marriage and reproduction

Marriage and procreation were the most prominent explanations given for taking a genetic test. In this section, we aim to explain how these two issues have become a concern in taking a genetic test. Ms A with rachitis (rickets), an inflammation of the spine, decided to take a genetic test by means of blood sampling, because her two children (19 and 14), who seem to have inherited the same disorder, were entering into the age of having girlfriends. She wanted to know the possibility of passing it on (iden) to her grandchildren. Ms A says:

When she was pregnant with sons, she did not think her disorder was hereditary, partly because her disorder appeared as a spontaneous genetic event without her parents having the same disorder. Seeing that her sons were short and had difficulty walking, she started to suspect that her disorder was hereditary, but did not think of taking a genetic test. Ms A recalls that it was when her sons started having girlfriends that she began thinking of having a genetic test. In the citation, she said that she wanted to prevent the disorder from being passed on to her grandchildren.

Motivation to take the test extends to a concern for procreation of other family members. Ms and Mr C, a mother and a son with Duchenne’s dystrophy took a genetic test some years ago—they do not remember exactly when. The symptom was already so severe, and the son and the mother were so occupied with a series of treatments, that a genetic test for them was only one of many tests buried in a busy schedule of daily life. Taking a genetic test for them was not a conscious choice. When asked why she took the test, Ms C answered:

Ms C suspects that her son will probably not have children himself because the average lifespan of patients with his disease is around 20. With the mother’s initiative, they took the test for the sake of her nieces and nephews, thinking specially about their offspring.

The story of Mr and Ms F is relevant here. Ms F has spinocerebellar degeneration (SCD). She became pregnant by accident, and the couple decided to continue with the pregnancy. The son is now almost 1 year old, but they have chosen not to have their son genetically tested. Mr F wants his son to decide for himself whether or not to take the test, although he is determined to tell his son about the possibility when he turns 20—the age of coming-of-age in Japan. Being asked why, Mr F says:

In all cases, marriage and reproduction are the main explanation given for taking a genetic test.

A certified clinical geneticist Dr Tomiwa at Kyoto University (male paediatrician, 50s) says that at-risk people and people with symptoms decide to take genetic testing on three critical occasions in the course of life: when choosing the direction of their study (shinro), when deciding on a job (shûshoku) and before marriage (kekkon). Choosing the direction of study and job hunting are important because, for example, the symptoms of muscular dystrophy hardly allow jobs requiring nimble fingers (interview with Dr Tomiwa in May 2007; see also Tomiwa, Reference Traphagan1998: 55). Parents of at-risk children mentioned in this context that, while the children were still small, they only said which jobs would not be suitable for them. Mr C, with Duchenne muscular dystrophy, is now studying computer systems because his mother, Ms C, suggested this in the knowledge that he would not be able to manage a full working life. But the moment of choosing the direction of study did not prompt him to take a genetic test. Only when marriage became a realistic possibility did he feel sufficiently motivated to take the genetic test.

The question arises, then, of which cultural elements of marriage are problematic when taking a genetic test? How does the cultural significance of marriage impact a person at risk? In the next section, we discuss how marriage interacts with thinking about having a genetic disorder.

Marriage as culture

In contemporary Japanese society, values around marriage stipulated in the Meiji Civil Code between 1898 and 1948, still have significant influence on how contemporary Japanese people think of marriage, even though the Civil Code was abolished in 1948. We first look at the culture of marriage as described in the Meiji Civil Code.

Marriage was, and still is, a union of two family lines rather than between two individuals (Yoshizumi, Reference Yoshizumi, Fujimura-Fanselow and Kameda1995: 188). Under the Civil Code, women usually entered into the family line of their husbands. Under the Code, the parents and grandparents of the husband participated in matters of marriage and divorce, sometimes more than the prospective couples themselves (Fuess, Reference Fuess2004: 115). A wife was expected to be virtuous, meaning ‘obedient to her in-laws, fertile, faithful, unquestioning, healthy, reserved, and honest’ (2004: 19). Giving birth, especially to a healthy son, has been an important factor in marriage, illustrated by the practice of trial marriage. To have a boy was important to prospective couples, because family name, grave and property were inherited by the eldest son. If the woman did not give birth after a certain period, or if she gave birth to a disabled child, the household had the right to cancel the marriage. Infertile women were called umazume, literally a ‘stone-woman’ (Sugiyama-Lebra, Reference Sugiyama-Lebra1984: 159). Though reproduction was one of the main purposes of marriage, fertility was also interpreted as a sign of the durability of a marriage and the harmony between the couple as well as the two families (Fuess, Reference Fuess2004: 50).

These views of marriage under the Meiji Civil Code are influential especially in the thinking of grandparents. Prospective grandparents are concerned about the health of their children-in-law, as well as their family, academic background and their position in society. The narratives from the interviewees should be seen against this historical and social background.

Among interviewees, marriage to a person with a genetic disorder was experienced as a scandal for the family of the spouse. A person with a genetic disorder is seen to contaminate the blood of the other family line. Ms H, with a genetic bone disorder, expressed that she was called a devil (akuma) by the family members of her ex-boyfriend and said that her existence in itself is a curse (tatari). In the current partnership, her father-in-law initially could not accept their marriage. But with the birth of a granddaughter, he finally accepted the marriage, though only after converting to Christianity. Ms H assumes that this enabled him to accept a sick woman as a daughter-in-law, and to expiate his sin which caused the event of his son marrying a woman with a genetic disorder.

The story of Ms and Mr F also indicates the importance of honour to the family. Initially, Mr F’s family opposed their marriage, saying, ‘you will contaminate the honour of our family (uchi ni doro o nuru)’ and ‘you bring shame on to your parents (oya ni haji o kakaseru)’. But when the young couple had a baby, the family could no longer oppose the marriage. Mr F’s father finally consented to their marriage on condition that the couple would convert to Buddhism, which the father had started practising initially to cure his eye disease. The father emphasizes that the genetic disorder of Ms F is a manifestation of a lack of virtue in his and their behaviour in their past life. Buddhism for him is a means to clear the impurity and, by doing so, he hopes that his 1-year-old grandson will not have inherited the disorder. The young couple does not agree with the father, but to gain his consent to their marriage, they entered a Buddhist organization.

A person with a genetic disorder entering another family is considered as ‘contaminating blood’ and as ‘giving shame’ to the other family line. This mindset was found more among grandparents, but also to some extent among younger people, albeit less, and especially among couples with a genetic disorder. Among the 46 cases, for example, family members regarded people with cerebral palsy less harshly. Some family members said: ‘I accepted their marriage because the disorder is not genetic (iden ja naikara).’

But why feel offended if a child with a genetic anomaly is born into your family when the child is not your own? Anthropologist Margaret Lock’s account of health and family is relevant here:

In this case, the role of a couple, especially the woman, in a given group is to reproduce a healthy child for two families. The birth of a child with an anomaly is thus not only a failure of the young parents to live up to the expectation of the two family lines, but also a failure to safeguard the honour of the two families. Mr F also says that his parents and brothers cannot accept the idea that their family now has a link with another family, which belongs to the group of the disabled in society. Thus the shame of a carrier of a genetic disorder spreads across the family lines.

Among the other 46 cases, too, it was found that family members started to undertake religious practices upon their family member’s marriage to a person with a genetic disorder. They perceive the marriage as a punishment for a lack of virtue in their family. This sudden taking up of a religious practice helps them pray for the health of their grandchildren, and helps them to accept their children’s marriage to a person with a genetic disorder. Among the 46 cases, four had started Buddhist religious practice and two had converted to Christianity. Five started regularly visiting their ancestors’ graves to ask for protection. In one case the grandmother kept feeding ‘clean rice’ to a child with an anomaly—rice cleaned by a special ceremony in a temple (okiyome). Some grandparents engaged in the practice of hyakunichi mairi—visiting a shrine for 100 days consecutively—hoping for a miracle. Based on his daily counselling practice, CCG Numabe (2007: 108) argued that behind this is a belief that, as long as the customs of one’s family household are obeyed, healthy and superior (kenkô de yûshû) offspring will result and the family line is protected. Examples of such customs are visiting the family grave and following religious practice.

When a genetic anomaly in a newborn appears spontaneously, the question of ‘which family line is guilty’ becomes a concern for family members. Dr X (Tokyo, paediatrician, male) said:

Although there are no official statistics to show the percentage of divorces attributable to the discovery of a genetic disorder, CCGs say that the divorce rate is twice to three times higher among couples with genetic disorders than among couples without. Ms C, a carrier of Duchenne muscular dystrophy, was divorced by her husband. Before he left, he accused her: ‘Why didn’t you tell me that you are a carrier before we got married? You brought contaminated blood (warui chi) into our family.’ Ms A also explained that she went for a test together with her sons because her sons would have to disclose information about their genetic disorder to their future spouses to be fair to them and their family. In contrast to the case of Ms C, Ms A does not feel guilty toward her husband’s family (katami ga semaku nai), because her husband and her sister-in-law are also disabled—with a deformity of legs. In this way, an issue of health and genetic condition is based on a fragile balance between the two family lines.

In interview accounts, marriage was emphasized as the main motivation for taking a genetic test, but the central issue at stake was offspring. There are, however cases in which marriage and procreation are separated. Thus, Ms E, whose father passed away from a genetic kidney disorder, has decided not to have children due to her genetic disorder, but she does plan to get married. And, again, Ms G has spina bifida. Although she does not know whether it is hereditary or not, she decided not to have children anyway. But she does want to have a partner.

Yet, in Japanese society, marriage is almost synonymous with procreation. It is reported that in 2005, 96.4 percent of married couples have at least one child in Japan (Ministry of Health, Labour and Welfare, 2005). Both Ms E and Ms G express that it will not be easy to find men who agree not to have children because it is such a strong norm to have a child after marriage in Japanese society. Research on the motivation to go for a genetic consultation (iden sôdan) shows that 90.5 percent of the consultations are sought out of concerns regarding reproduction rather than for marriage itself (Tajima, Reference Tajima and Aoki1998: 132). For this reason, certified clinical geneticists also say that they recommend clients to tell their fiancé(e) about their genetic disorder before they get married, because it would be more troublesome if their children turn out to be (potentially) affected and the partner was not informed of the risk beforehand.

Procreation is a means of perpetuating the family line. Marriage, then, becomes problematic where there is a chance of transmitting a genetic anomaly to the next generation. The fear of transmitting a disorder is probably widely shared in many places in the world, but how and why genetic heredity becomes a source of fear may vary in different cultural settings. In the next section, we will discuss fear of the inheritance of a genetic disorder observed among interviewees.

How does inheritance of a genetic disorder matter?

Those who have given birth to children with a disability often say they feel guilt about having failed to give the best to their children and about being the cause of their child’s pain. The Japanese scholar in the study of nursing, Tsukamoto, cites a narrative from her interview with a mother whose child had a spontaneous genetic anomaly:

Genetic counsellor TamuraFootnote ⁴ notes that the fact that their children will fall genetically ill in the future is a great shock for many of the clients (Tamura, Reference Tamura and Fukuhara2007: 77). When a couple does not have a child yet, they are told by people close to them, ‘Would you knowingly make your child suffer? (shittete kurô saserunoka?)’ (Cases 1, 2, 3, 6 and 8).

In addition to this, a genetic disorder is thought to be absolutely incurable, for which they are intensely disliked (imikirawareru). Mr D was diagnosed with spinal muscular atrophy (SMA) in 2001, which is a late-onset muscular disorder in males. Being asked what his first reaction was after the diagnosis, Mr D explains:

Mr D continues to say that although his physical condition is increasingly weakening, he is not worried about his life any more, as he is over 60. He worked until he retired, did everything he wanted to do and his children are independent. His only worry is the future of his male grandchildren, as he has only daughters. He said he is sorry for the fact that they might have inherited the same disorder.

All the CCGs also report that although clients might raise technical questions about the treatment in the first part of counselling sessions, in the end most of the clients express self-blame (jiseki no nen), sometimes bursting into tears at the thought of having transmitted their disorders to their children. CCGs also report that some of their clients told them that when they have quarrels with their children, the children blame their parents for having transmitted a genetic disorder, and even for having given birth to them.

How do cultural notions of ‘care’, ‘family’, ‘disorder’ and ‘independence’ contribute to a culture of intensely disliking hereditary genetic disease? More than half of the individuals out of the 46 cases expressed anxiety about receiving ‘care’ (sewa, mendô). For example, worries about becoming bedridden, taking care of oneself and being dependent were expressed by most of the 46 cases. CCGs also mentioned that the first question from clients during the counselling sessions is whether they will need extra equipment to survive, and if they will need extra care from others. From these accounts, it was clear that dependence is intensely disliked. If someone is certainly going to lose independence, the question of who will take care of them arises. In the following section, we discuss the culture of family and care in relation to the intense dislike of genetic heredity (iden).

Care, family and a genetic disorder

Fear of the child becoming a burden to the family was expressed in 5 out of 8 cases. Ms E said:

Some parents seemed to be preparing for the future of their children, after they lose independence. Ms H said that her younger sister, without a disorder, was raised with the idea that she had to take care of her elder sister, Ms H, for the rest of her life. She was also told not to get married. Among the other 46 interviewees, similar statements were found. For example, one son was told to find a partner good at cooking so that she could take care of his sister with a disability (there were four similar cases). In five cases, a sister of a disabled sibling was sent to a school to learn household chores to prepare for the future. Females are more often expected to provide care. Parents of disabled children stated that they gave care out of love and affection (aijô), and with the idea of compensating for the illness they had given to their children (oya toshiteno sekinin de oginau). Parents’ guilt about transmitting a disorder is explained by various factors, and one of the prominent explanations is the fact that they transmitted a life of dependence to their children.

The empirical studies of Traphagan and Kiefer on the elderly, senility (boke) and family care in Japan provide helpful analyses because such problems and problems of genetic disorders have much in common: patients are ‘less able’, ‘health problems tend to be multiple’ and ‘their capacity to recover is impaired’ (Kiefer, Reference Kiefer, Norbeck and Lock1987: 104). Traphagan points out that elderly people try to avoid seeing their forgetfulness as ‘biomedical forms of dementia’ (1998: 94), such as Alzheimer’s, which cannot be cured. Instead, they try to see it as something caused by exterior conditions, such as age, environment and a lack of daily exercise; as something that can be cured in the end (1998: 94). Incurable biomedical disorders are feared, as they might require continued care from family members (1998: 94).

Although the situation in Japan appears to be changing, in many Japanese families, particularly in rural areas, only one child receives the majority of inheritance and takes on the position of head of the household. This comes with the expectation that the inheritance will be reciprocated in the form of provision of health care, a place to live, and economic support as needed in old age (Long, Reference Long2005: 90; Traphagan, Reference Traphagan1998: 93). Older Japanese often are able to legitimately expect to depend upon at least one child for social support in old age. There is a delicate interdependent relationship among family members regarding the issue of care, and, to become senile means placing an undue burden on family members. Senility is feared because it involves ‘undue’ and illegitimate demands, in terms of family interdependence, which breaks the balance of interaction within a household. It means that the aged fall into a position where their behaviour is at odds with the needs of the group—specifically, one’s family (Traphagan, Reference Traphagan1998: 93–95). To avoid this, efforts are made by the aged not to become senile, so they can legitimately remain in the system of family care.

Genetic disorders share similar aspects. There is a deep-rooted idea that a genetic disorder is incurable, as Mr D’s account indicates, and on top of the physical pain and suffering, there is a fear of losing one’s independence as well as becoming a burden to the community.

Fear of genetic disorders can be understood in terms of fear of becoming an undue burden and a fear that their offspring will become an undue burden to their family and society. Genetic information becomes particularly sensitive and is not easily shared, as parents do not want their children to worry that they may become a burden to the family in the future (shinpai sasetaku nai), or that their children may themselves give birth to a child with a genetic disorder (Nomaguchi et al., Reference Nomaguchi, Hasegawa, Yamaguchi and Itai2007: 57).

One might wonder if the public health care system can solve the problem of this burden. Since April 2006, ‘a law to support independence of disabled people’ or Shôgaisha jiritsu shien hô was introduced.Footnote ⁵ According to this law, protection from the state in the form of financial support and assistance was reduced, including for people with a genetic disorder. For example, a person who uses services now pays 10 percent of its cost, while before 2006 more than 90 percent of the costs were covered by the state. This policy is now applied to all disabled people, regardless of their income, while before 2006 those with low social security benefits did not need to pay for the service at all.Footnote ⁶ The name of the law is ‘independence of the disabled’, but it means the withdrawal of the state’s care and assistance. Less support from the state means more support from family members. All the interviewees expressed their complaints and anxiety for the future, i.e. whether they can maintain the life standard that they currently have. So the fear of becoming an undue burden is expected to increase.

Discussion

Information on genetic heredity in Japan is regarded as a sensitive and potentially stigmatizing. Negatively, it is also accompanied by a sense of guilt and shame, and associated with contamination, punishment and the dishonour of the family line. Inheritance information is hardly shared with non-family members, because the information might cause problems or discrimination against family members, especially with regard to marriage and reproduction.

As a discussion point, we want to raise the issue of the stigma surrounding genetic disorders and its cultural implications. Here we point out that a well-intentioned attempt at maintaining patient confidentiality might actually have the effect of augmenting the fears and taboos surrounding hereditary genetic disorders.

Medical institutions in Japan employ genetic exceptionalist policies in dealing with genetic and inheritance information. Thus genetic information is kept confidential and doctors from other clinical departments only have conditional access. The genetic department provides a locker for storing handwritten medical records, while all other non-genetic medical records are computerized. This system of storing information aims to prevent any leakage of genetic and inheritance information to unauthorized medical professionals and society. At first glance, the exceptional treatment of genetic and inheritance information as fundamentally different, compared to other health-related information, would appear to be justified and understandable given the stigma around hereditary genetic diseases. But a closer look at these policies reveals that the exceptional treatment of the information is based on a culture of shame and stigma around hereditary genetic diseases. As a result, the name ‘genetic department’ at hospitals is thought to contain ‘special secret sickness’ and ‘uncommon physical and mental conditions’. Accordingly, the general population tends to believe that they have nothing to do with that department.

Professionals such as CCGs, genetic counsellors and medical doctors try to raise the consciousness of the population about genetic and inheritance information by removing misconceptions and unnecessary fear about genetics and inheritance (Aoki, Reference Aoki1998; Watanabe, Reference Watanabe2007). Yet, the way medical institutions treat genetic and inheritance information is partly based on the popular notions of genetic and inheritance information. Though culture should be respected, popular notions sometimes impede the wellbeing of disadvantaged groups in society.